Fast and SNP-tolerant detection of complex variants and splicing in short reads

Thomas D. Wu; Şerban Nacu

doi:10.1093/bioinformatics/btq057

February 10, 2010BioinformaticsOpen Access

Fast and SNP-tolerant detection of complex variants and splicing in short reads

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Key Points

To develop a fast and SNP-tolerant computational framework for accurately aligning short reads and detecting complex genomic variants and splicing events.
Designed and implemented high-performance sequence alignment algorithms within the GMAP software package.
Developed core alignment routines in C with supplementary utility programs in Perl.
Created an open-source tool capable of efficient variant-tolerant and splice-aware short-read mapping.
Provided public access to source code and analysis utilities via the GMAP software distribution.

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Implication

Computational study demonstrates fast detection of complex variants and splicing in short reads, suggesting improved accuracy for high-throughput sequencing.

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Wu et al. (2010) studied this question.

synapsesocial.com/papers/69a011ada5a27806a00b5f30 https://doi.org/10.1093/bioinformatics/btq057

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Fast and SNP-tolerant detection of complex variants and splicing in short reads

Key Points

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Fast and SNP-tolerant detection of complex variants and splicing in short reads

Key Points

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Implication

Abstract

Discussion

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